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Phenotypes Associated with This Genotype
Genotype
MGI:2182941
Allelic
Composition
Airetm1Pltn/Airetm1Pltn
Genetic
Background
involves: 129S4/SvJae * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Airetm1Pltn mutation (1 available); any Aire mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• absence of the adrenal glands is seen with incomplete penetrance; however, the thyroid and pancreas are normal
• thymic atrophy is seen in 2 of 14 mutants

immune system
• thymic atrophy is seen in 2 of 14 mutants
• the TCR-Vbeta repertoire is altered in peripheral T cells
• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls
• 73% of homozygous mice generated autoantibodies against at least one of the organs (liver, testis, pancreas and adrenal gland) tested and 40% of mice contain autoantibodies against two or more of the organs
• 50% of mutants exhibit accumulation of lymphocytes in periportal regions

liver/biliary system
• 50% of mutants exhibit accumulation of lymphocytes in periportal regions

reproductive system
• 85% of male or female mutants fail to produce any litters

hematopoietic system
• thymic atrophy is seen in 2 of 14 mutants
• the TCR-Vbeta repertoire is altered in peripheral T cells
• immunization with hen egg lysozyme antigen results in a 4-5-fold increase in proliferating response of peripheral T cells, with mutants showing twice as many T cells in the lymph nodes than controls


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory